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Hypomyelination and congenital cataract: Three siblings presentation
(Wolters Kluwer Medknow Publications, 2020)
Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both ...
A rare cause of globus pallidus and dentate nucleus hyperintensity in childhood: MBOAT mutation
(Wolters Kluwer Medknow Publications, 2021)
Mutations in mammalian membrane-bound O-acyltransferase domain-containing (MBOAT) 7 gene are a rare cause for intellectual disability, developmental delay, autistic findings, epilepsy, truncal hypotonia with appendicular ...